G69V (p.Gly69Val) variant of CPS1 (P31327)
G69V (p.Gly69Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- ExAC rs777083560
- gnomAD rs777083560
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.99
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available